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TMEM185B Gene

protein-coding   GIFtS: 35
GCID: GC02M120978

Transmembrane Protein 185B

(Previous names: family with sequence similarity 11, member B, transmembrane...)
(Previous symbol: FAM11B)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transmembrane Protein 185B1 2     ee3_22
FAM11B1 2 3     Putative Transmembrane Protein 185B2
Family With Sequence Similarity 11, Member B1 2     Protein FAM11B3
Transmembrane Protein 185B (Pseudogene)1 2     

External Ids:    HGNC: 188961   Entrez Gene: 791342   Ensembl: ENSG000002264797   UniProtKB: Q9H7F43   

Export aliases for TMEM185B gene to outside databases

Previous GC identifers: GC02M120696 GC02M113302


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TMEM185B Gene:
TMEM185B (transmembrane protein 185B) is a protein-coding gene. Diseases associated with TMEM185B include malaria, and neuronitis. An important paralog of this gene is TMEM185A.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM185B gene promoter:
         Sox5   AML1a   NRSF form 1   NRSF form 2   E47   C/EBPalpha   Pax-3   E2F-1   E2F   LyF-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TMEM185B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM185B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q14.2   Ensembl cytogenetic band:  2q14.2   HGNC cytogenetic band: 2q14.2

TMEM185B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM185B gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M120978:  view genomic region     (about GC identifiers)

Start:
120,975,047 bp from pter      End:
120,980,984 bp from pter
Size:
5,938 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: T185B_HUMAN, Q9H7F4 (See protein sequence)
Recommended Name: Transmembrane protein 185B  
Size: 350 amino acids; 40599 Da
Sequence caution: Sequence=BAB14938.1; Type=Frameshift; Positions=13;
Secondary accessions: A8K1G5 Q53T33 Q66K44 Q8IZ77

Explore the universe of human proteins at neXtProt for TMEM185B: NX_Q9H7F4

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • REFSEQ proteins: NP_077026.2  
    ENSEMBL proteins: 
     ENSP00000453399  

    TMEM185B Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR019396 TM_Fragile-X-F-assoc

    Graphical View of Domain Structure for InterPro Entry Q9H7F4

    ProtoNet protein and cluster: Q9H7F4

    UniProtKB/Swiss-Prot: T185B_HUMAN, Q9H7F4
    Similarity: Belongs to the TMEM185 family


    TMEM185B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM185B
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    hsa-miR-4311 hsa-miR-875-3p hsa-miR-4272 hsa-miR-132 hsa-miR-421 hsa-miR-4274 hsa-miR-3119 hsa-miR-3148
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    T185B_HUMAN, Q9H7F4: Membrane; Multi-pass membrane protein (Potential)

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    TMEM185B for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMEM185B
    Interactions:

        Search GeneGlobe Interaction Network for TMEM185B

    1 Interacting protein for TMEM185B (Q9H7F43) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GBF1Q925383I2D: score=2 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TMEM185B (T185B)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TMEM185B gene: 
    NM_024121.2  

    Unigene Cluster for TMEM185B:

    Transmembrane protein 185B
    Hs.376722  [show with all ESTs]
    Unigene Representative Sequence: NM_024121
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000426077(uc002tmj.2)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TMEM185B (see all 21):
    hsa-miR-4311 hsa-miR-875-3p hsa-miR-4272 hsa-miR-132 hsa-miR-421 hsa-miR-4274 hsa-miR-3119 hsa-miR-3148
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Primer
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    OriGene qPCR primer pairs and template standards for TMEM185B
    OriGene qSTAR qPCR primer pairs in human, mouse for TMEM185B
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat TMEM185B
      QuantiTect SYBR Green Assays in human, mouse, rat TMEM185B
      QuantiFast Probe-based Assays in human, mouse, rat TMEM185B

    Additional mRNA sequence: 

    AF530474.1 AK021716.1 AK024632.1 AK090980.1 AK289880.1 BC016849.1 BC068087.1 BC080607.1 

    4 DOTS entries:

    DT.211742  DT.97769564  DT.120990453  DT.92418709 

    Selected AceView cDNA sequences (see all 151):

    AA844074 AX746715 BX110007 BQ018036 BU839328 BI756067 BM990700 BE909235 
    BM460225 BM556630 AW136349 AL119878 BQ721728 BC016849 AF530474 AL597514 
    T91836 CR595954 AK090980 AA759372 AU118868 AK021716 AI858971 AA255439 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TMEM185B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATGGATGT
    TMEM185B Expression
    About this image


    TMEM185B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Peripheral blood-derived hematopoietic stem cells (family)
    TMEM185B Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

    SOURCE GeneReport for Unigene cluster: Hs.376722
        Custom PCR Arrays for TMEM185B
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for TMEM185B
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat TMEM185B
    QuantiTect SYBR Green Assays in human, mouse, rat TMEM185B
    QuantiFast Probe-based Assays in human, mouse, rat TMEM185B
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM185B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TMEM185B gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem185b1 , 5 transmembrane protein 185B1, 5 88.76(n)1
    96(a)1
      1 (52.31 cM)5
    2263511  NM_146103.21  NP_666215.11 
     1195261605 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    88(a)
    1 → many
    4(18006592-18016098)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    88(a)
    1 → many
    GL343310.1(1062943-1066391)
    zebrafish
    (Danio rerio)
    Actinopterygii TMEM185A6
    transmembrane protein 185A
    83(a)
    1 → many
    21(41866409-41879790) ENSDARG00000044327
    fruit fly
    (Drosophila melanogaster)
    Insecta CG141941 CG14194 54.6(n)
    46.26(a)
      32908  NM_133132.2  NP_573360.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y116A8C.91 CELE_Y116A8C.9 49.67(n)
    41.83(a)
      178473  NM_070609.4  NP_503010.2 


    ENSEMBL Gene Tree for TMEM185B (if available)
    TreeFam Gene Tree for TMEM185B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TMEM185B gene
    TMEM185A2  
    2 SIMAP similar genes for TMEM185B using alignment to 1 protein entry:     T185B_HUMAN:
    TMEM185A    FAM11A

    TMEM185B for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for TMEM185B
    PGOHUM00000235422 PGOHUM00000257277


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TMEM185B (see all 152)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs757297101,2
    C,F--113298373(+) TGCCTT/GTCCTC 1 -- ds50011Minor allele frequency- G:0.06NA 120
    rs1509516481,2
    C--120974554(+) GAAAAG/TAATCC 1 -- ds50010--------
    rs20189621,2
    C,F,A,H--120974602(+) AGTATA/CTTTGC 1 -- ds500112Minor allele frequency- C:0.36NS EA NA WA 2284
    rs1408001021,2
    --120974783(+) AACTTA/CTCCAA 1 -- ds50010--------
    rs1145525521,2
    C,F--120974836(+) CCACTC/GAAGCC 1 -- ds50011Minor allele frequency- G:0.06WA 118
    rs1445975131,2
    --120974925(+) CATGAA/TAATAT 1 -- ds50010--------
    rs1893302321,2
    --120975175(+) GCATCA/GTTTTA 1 -- ut310--------
    rs1808028311,2
    --120975207(+) CCTGGC/TTTAAC 1 -- ut310--------
    rs1165619071,2
    C,F--120975224(+) CTGCTG/ACATCC 1 -- ut311Minor allele frequency- A:0.05WA 118
    rs1385314931,2
    C--120975250(+) CCTTCA/GGTCTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for TMEM185B (120975047 - 120980984 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TMEM185B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508164CNV Loss20534489
    nsv834346CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing TMEM185B
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM185B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    2 diseases for TMEM185B:    
    About MalaCards
    malaria    neuronitis


    TMEM185B for disorders           About GeneDecksing


    Export disorders for TMEM185B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TMEM185B gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TMEM185B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation. (PubMed id 12404111)1, 3 Shaw M.A.... Gecz J. (Eur. J. Hum. Genet. 2002)
    4. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    6. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    8. Cloning of a novel neuronally expressed orphan G-protein-coupled receptor which is up-regulated by erythropoietin, interacts with microtubule-associated protein 1b and colocalizes with the 5-hydroxytryptamine 2a receptor. (PubMed id 15525354)1 Maurer M.H....Schneider A. (J. Neurochem. 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79134 HGNC: 18896 AceView: FAM11B Ensembl:ENSG00000226479 euGenes: HUgn79134
    ECgene: TMEM185B H-InvDB: TMEM185B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TMEM185B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TMEM185B gene:
    Search GeneIP for patents involving TMEM185B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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